Refining risk-estimates in HNPCC: are we there yet?
A partir d'une revue systématique de la littérature publiée jusqu'en mars 2019 (10 études), cette méta-analyse évalue le risque de cancer colorectal chez les personnes porteuses d'une mutation d'un gène de réparation des mésappariements de l'ADN ou syndrome de Lynch, en fonction du gène considéré, du sexe et de l'âge
The most important benefit to be derived from detecting the presence of a pathogenic variant in cancer susceptibility genes lies in the ability to perform predictive testing in at-risk relatives, and to then undertake risk-reducing interventions. In the case of the Mismatch Repair (MMR) genes that predispose to Hereditary Nonpolyposis Colorectal Cancer (HNPCC), or Lynch syndrome, the recognition of carrier status enables targeted, aggressive surveillance, generally by means of colonoscopy, the intent of which is to reduce colorectal cancer risk by means of eliminating its precursor, the adenoma.
JNCI Cancer Spectrum , éditorial en libre accès, 2019